ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8233
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZRSR2
Synonyms (NCBI Gene) Gene synonyms aliases
OFD21, U2AF1-RS2, U2AF1L2, U2AF1RS2, URP, ZC3H22
Disease Acronyms (UniProt) Disease acronyms from UniProt database
OFD21
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3` splice site in pre-mRNA splicing, and may play a role in network interactions
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0000245 Process Spliceosomal complex assembly IMP 21041408
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome IMP 9237760
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0005515 Function Protein binding IPI 9237760, 23602568, 25416956, 28514442, 31515488, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300028 23019 ENSG00000169249
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q15696
Protein name U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2 (CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 2) (Renal carcinoma antigen NY-REN-20) (U2(RNU2) small nuclear RNA auxiliary factor 1-like 2) (
Protein function Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs i
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00642 zf-CCCH 167 → 193 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
PF00076 RRM_1 240 → 298 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00642 zf-CCCH 307 → 332 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9237760}.
Sequence 
MAAPEKMTFPEKPSHKKYRAALKKEKRKKRRQELARLRDSGLSQKEEEEDTFIEEQQLEE
EKLLERERQRLHEEWLLREQKAQEEFRIKKEKEEAAKKRQEEQERKLKEQWEEQQRKERE
EEEQKRQEKKEKEEALQKMLDQAENELENGTTWQNPEPPVDFRVMEKDRANCPFYSKTGA
CRFGDRCSRKHNFPTSSPTLLIKSMFTTFGMEQCRRDDYDPDASLEYSEEETYQQFLDFY
EDVLPEFKNVGKVIQFKVSCNLEPHLRGNVYVQYQSEEECQAALSLFNGRWYAGRQLQCE
FCPVTRWKMAICGLFEIQQCPRGKHCNFLHVFRNPNNEFWEANRDIYLSPDRTGSSFGKN
SERRERMGHHDDYYSRLRGRRNPSPDHSYKRNGESERKSSRHRGKKSHKRTSKSRERHNS
RSRGRNRDRSRDRSRGRGSRSRSRSRSRRSRRSRSQSSSRSRSRGRRRSGNRDRTVQSPK
SK
Sequence length 482
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    mRNA Splicing - Minor Pathway
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Myelodysplastic syndrome MYELODYSPLASTIC SYNDROME rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587 27992414
Myelomonocytic leukemia Juvenile Myelomonocytic Leukemia rs137854555, rs267606602, rs267606604, rs137854562, rs267606607, rs121918546, rs112445441, rs121913529, rs121913530, rs121918465, rs267606708, rs267606706, rs121434596, rs121913237, rs397514641
View all (68 more)		 26457647
Show/Hide Text Mining Associations (23)
Associations from Text Mining
Disease Name Relationship Type References
Anemia Macrocytic Associate 35351745
Atypical Squamous Cells of the Cervix Associate 35351745
Behcet Syndrome Associate 35351745
Chromosome 8 trisomy Associate 28220884
Disseminated Intravascular Coagulation Associate 40066790
Heart Arrest Associate 40066790
Hematoma Associate 40066790
Hypergammaglobulinemia Associate 36445600
Immotile cilia syndrome due to excessively long cilia Associate 38158857
Inflammation Associate 34615655